Network members and associated colleagues are preparing best practice guidelines aimed to help the local laboratory and clinical teams. These are laboratory based guidelines which have been formulated by expert opinion. They are not evidence based guidelines.
If users/readers have any comments on any aspect of these guidelines the network would very much want to hear from you.
Please use the Contact form to get in touch.
- Met Bio Net Guidelines
- Best Practice Guideline Lysosomal enzyme reporting:
- Best Practice Guidelines for the Biochemical Investigation of Global Developmental Delay for Inherited Metabolic Disorders:
- Biochemical Investigation of Fits and Seizures for Inherited Metabolic Disorders:
- Biochemical Investigation of Patients with Foetal and Neonatal Hydrops:
- Diagnosis of inherited metabolic disease in children with dysmorphic features:
- MetBioNet Guidelines for Amino Acid Analysis:
- Guidelines for the Investigation of Hyperammonaemia:
- Investigation of An Inherited Metabolic Cause of Cardiomyopathy:
- Investigation of hypoglycaemia in infants and children:
- Investigation of rhabdomyolysis for inherited metabolic disorders:
- Best Practice Guidelines for the Metabolic investigations of sudden infant death:
- Metabolic Liver Disease in the Older Child:
- Neonatal Jaundice in Inherited Metabolic Disorders:
- UK Metabolic Biochemistry Network Recommendations for the Analysis of Urinary Organic Acids by Gas Chromatography Mass Spectrometry:
- BIMDG Guidelines
DISCLAIMER - Terms and Conditions of Use
These guidelines represent best practice in the opinion of the author(s) and have been peer reviewed. However, the evidence used in their compilation may not be identifiable and has not been graded. Furthermore new evidence at any time can invalidate these recommendations. No liability whatsoever can be taken as a result of using this information.
Met Bio Net Guidelines
Best Practice Guideline Lysosomal enzyme reporting:
Provider: MetBio.Net Group
Posted: June 2021,
Due for review: 1-Nov-2025,
Organisation: MetBio.Net
Author: K Harvey, V Warburton
Best Practice Guidelines for the Biochemical Investigation of Global Developmental Delay for Inherited Metabolic Disorders:
Updated 30 November 2020 (Version 3. October 19)
Provider: Dr. Sarah Hogg
Posted: 30-Nov-2020,
Due for review: 30-Nov-2024,
Organisation: National Metabolic Biochemistry Network
Author: Dr. Sarah Hogg
Biochemical Investigation of Fits and Seizures for Inherited Metabolic Disorders:
Provider: Dr Mick Henderson, Mr Robert Barski
Posted: 19-Nov-2018, Due for review: 19-Nov-2022,
Organisation: National Metabolic Biochemistry Network
Author: Dr Mick Henderson, Mr Robert Barski
Biochemical Investigation of Patients with Foetal and Neonatal Hydrops:
Provider: George Gray
Posted: 28-Jan-2013, Due for review: 28-Jan-2018,
Organisation: National Metabolic Biochemistry Network
Author: George Gray
Diagnosis of inherited metabolic disease in children with dysmorphic features:
Provider: Dr George Gray
Posted: 28-Jan-2013,
Due for review: 28-Jan-2018,
Organisation: National Metabolic Biochemistry Network
Author: Dr George Gray
MetBioNet Guidelines for Amino Acid Analysis:
Provider: Stuart Moat
Posted: 19/05/2023, Due for review: 19/05/2028,
Organisation: MetBioNet
Author: Stuart Moat
Guidelines for the Investigation of Hyperammonaemia:
Provider: Helen Aitkenhead
Posted: 10-Dec-2018, Due for review: 10-Dec-2023,
Organisation: MetBio
Author: Helen Aitkenhead
Investigation of An Inherited Metabolic Cause of Cardiomyopathy:
Provider: Ann Bowron, Simon Olpin
Posted: 13-Jul-2012,
Due for review: 13-Jul-2017,
Organisation: National Metabolic Biochemistry Network
Author: Ann Bowron, Simon Olpin
Investigation of hypoglycaemia in infants and children:
Provider: Camilla Scott, Simon Olpin
Posted: 19-Nov-2018,
Due for review: 19-Nov-2019,
Organisation: National Metabolic Biochemistry Network
Author: Camilla Scott, Simon Olpin
Investigation of rhabdomyolysis for inherited metabolic disorders:
**Currently under review**
Provider:
Posted: , Due for review: ,
Organisation: National Metabolic Biochemistry Network
Author:
Best Practice Guidelines for the Metabolic investigations of sudden infant death:
Provider: Simon Olphin
Posted: 27-Nov-2010, Due for review: 27-Nov-2015,
Organisation: Olpin SE. Metabolic investigations of sudden infant death. Review Article - Ann Clin Biochem 2004; 4
Author: Simon Olphin
Metabolic Liver Disease in the Older Child:
Provider: Mary Anne Preece, Fiona Carragher, Roshni Vara
Posted: 19-Nov-2018,
Due for review: 19-Nov-2022,
Organisation: National Metabolic Biochemistry Network
Author: Mary Anne Preece, Fiona Carragher, Roshni Vara
Neonatal Jaundice in Inherited Metabolic Disorders:
Provider: Dr. Sarah Heap and Dr Gemma Holder
Posted: 28-Jan-2013, Due for review: 28-Jan-2018,
Organisation: National Metabolic Biochemistry Network
Author: Dr. Sarah Heap and Dr Gemma Holder
UK Metabolic Biochemistry Network Recommendations for the Analysis of Urinary Organic Acids by Gas Chromatography Mass Spectrometry:
November 2018
Provider: RS Carling, R Barski, SL Hogg, K Witek and SJ Moat
Posted: 30-Nov-2020, Due for review: 30-Nov-2024,
Organisation: MetBio.Net
Author: RS Carling, R Barski, SL Hogg, K Witek and SJ Moatr
Support for remote/virtual IMD clinics - IMD monitoring on patient collected samples
Updated 30 November 2020 (Version 3. October 19)
Provider: Dr Helena Kemp
Posted: 26-02-2024,
Due for review: 15-09-2029,
Organisation: National Metabolic Biochemistry Network
Author: Dr. Helena Kemp